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Author Details

Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
2011
51
20
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37798908Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.Am J Med Genet A2024
36669109TMEM161B modulates radial glial scaffolding in neocortical development.Proc Natl Acad Sci U S A2023
37794925Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.Brain Commun2023
37318662An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.Mol Biol Rep2023
37055917Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.Clin Genet2023
37119330AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.Acta Neuropathol2023
34989426Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.Hum Mutat2022
36256512Phenotypic continuum of NFU1-related disorders.Ann Clin Transl Neurol2022
35275316Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.J Genet Eng Biotechnol2022
32901138A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.Eur J Hum Genet2021
34546337Implication of folate deficiency in CYP2U1 loss of function.J Exp Med2021
33963192Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.Nat Commun2021
33220177Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.Neuron2021
33123925A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Neurol Sci2021
32719099Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.J Med Genet2021
31586564The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.Behav Brain Res2020
33058759Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.Am J Hum Genet2020
32740904Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.Clin Genet2020
32909676Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.Am J Med Genet A2020
32875576ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.Clin Genet2020
32949109Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.Am J Med Genet A2020
32267100Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.Am J Med Genet A2020
32404165Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.BMC Med Genomics2020
32293671Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.Brain2020
30575274GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.Am J Med Genet A2019
31273323Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.J Hum Genet2019
31422819Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.Am J Hum Genet2019
30770808Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.Nat Commun2019
30755602Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.Nat Commun2019
28626029A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.J Med Genet2018
30178464Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.Ann Neurol2018
30167850Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Hum Genet2018
30420557Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.EMBO J2018
30410579Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.Mol Cytogenet2018
30273929Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies.Cytogenet Genome Res2018
28390064PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Clin Genet2018
29193034Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.Clin Genet2018
28823706Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.Am J Hum Genet2017
28229379A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.Metab Brain Dis2017
28179633Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.J Hum Genet2017
28343629Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.Am J Hum Genet2017
28965847Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.Am J Hum Genet2017
26996948Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Am J Hum Genet2016
27421267Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.Hum Genomics2016
27289259Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.Eur J Paediatr Neurol2016
27130255PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.Ann Neurol2016
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
23794361Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.Am J Med Genet A2013
22581640Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.Am J Med Genet A2012
22786707Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.Am J Med Genet A2012
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Collaborators

Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 49
Joseph G Gleeson
University of California
Co-authored papers 21
Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
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University of California
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Hamad Medical Corporation.
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University of Virginia
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Howard Hughes Medical Institute, The Rockefeller University
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Kocaeli University Faculty of Medicine
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Stefan T Arold
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Pablo Lapunzina
Institute of Medical and Molecular Genetics
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Murat Gunel
Yale School of Medicine
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Kelly Schoch
Duke University School of Medicine
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Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
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Naiara Akizu
University of Pennsylvania
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Alexandra Durr
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Siddharth Banka
University of Manchester
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Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
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Vandana Shashi
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